3b18fcdfaf9e983beb6c44e91d6dbbfba160b1bf
HIST1H1B.md
| ... | ... | @@ -1,6 +1,15 @@ |
| 1 | 1 | # HIST1H1B |
| 2 | 2 | ## Overview |
| 3 | 3 | This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.<sup>1,2</sup> Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins. |
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2017-01-26 : Krysiak : FL |
|
| 10 | + 2018-05-01 : Chapuy : DLBCL |
|
| 11 | + 2021-04-01 : Sarkozy : PMBL |
|
| 12 | +``` |
|
| 4 | 13 | ## Relevance tier by entity |
| 5 | 14 | |
| 6 | 15 | |Entity|Tier|Description | |
| ... | ... | @@ -46,3 +55,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 46 | 55 | <!-- PMBL: sarkozyMutationalLandscapeGray2021a --> |
| 47 | 56 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 48 | 57 | <!-- DLBCL: chapuyMolecularSubtypesDiffuse2018b --> |
| 58 | +## References |
|
| 59 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
|
| 60 | +2. Chapuy B, Stewart C, Dunford AJ, Kim J, Kamburov A, Redd RA, Lawrence MS, Roemer MGM, Li AJ, Ziepert M, Staiger AM, Wala JA, Ducar MD, Leshchiner I, Rheinbay E, Taylor-Weiner A, Coughlin CA, Hess JM, Pedamallu CS, Livitz D, Rosebrock D, Rosenberg M, Tracy AA, Horn H, van Hummelen P, Feldman AL, Link BK, Novak AJ, Cerhan JR, Habermann TM, Siebert R, Rosenwald A, Thorner AR, Meyerson ML, Golub TR, Beroukhim R, Wulf GG, Ott G, Rodig SJ, Monti S, Neuberg DS, Loeffler M, Pfreundschuh M, Trümper L, Getz G, Shipp MA. Molecular subtypes of diffuse large B cell lymphoma are associated with distinct pathogenic mechanisms and outcomes. Nat Med. 2018 May;24(5):679–690. PMCID: PMC6613387 |
|
| 61 | +3. Sarkozy C, Hung SS, Chavez EA, Duns G, Takata K, Chong LC, Aoki T, Jiang A, Miyata-Takata T, Telenius A, Slack GW, Molina TJ, Ben-Neriah S, Farinha P, Dartigues P, Damotte D, Mottok A, Salles GA, Casasnovas RO, Savage KJ, Laurent C, Scott DW, Traverse-Glehen A, Steidl C. Mutational landscape of gray zone lymphoma. Blood. 2021 Apr 1;137(13):1765–1776. PMID: 32961552 |
HIST1H1C.md
| ... | ... | @@ -6,6 +6,13 @@ This is one of several genes that encode linker histone proteins that are recurr |
| 6 | 6 | Mutations in this gene were first described in DLBCL and FL in 2011 by Morin et al.<sup>1</sup> Mutations were subsequently reported in BL by Panea et al.<sup>3</sup> |
| 7 | 7 | |
| 8 | 8 | |
| 9 | +```mermaid |
|
| 10 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 11 | +timeline |
|
| 12 | + title Publication timing |
|
| 13 | + 2011-07-27 : Morin : DLBCL |
|
| 14 | + 2019-09-26 : Panea : BL |
|
| 15 | +``` |
|
| 9 | 16 | ## Relevance tier by entity |
| 10 | 17 | |
| 11 | 18 | |Entity|Tier|Description | |
HIST1H1D.md
| ... | ... | @@ -1,6 +1,15 @@ |
| 1 | 1 | # HIST1H1D |
| 2 | 2 | ## Overview |
| 3 | 3 | This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.<sup>1,2</sup> Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins. |
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2013-08-15 : Morin : DLBCL |
|
| 10 | + 2017-01-26 : Krysiak : FL |
|
| 11 | + 2017-07-27 : Jallades : MZL |
|
| 12 | +``` |
|
| 4 | 13 | ## Relevance tier by entity |
| 5 | 14 | |
| 6 | 15 | |Entity|Tier|Description | |
| ... | ... | @@ -50,3 +59,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 50 | 59 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 51 | 60 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 52 | 61 | <!-- MZL: jalladesExomeSequencingIdentifies2017 --> |
| 62 | +## References |
|
| 63 | +1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992 |
|
| 64 | +2. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
|
| 65 | +3. Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A. Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica. 2017 Oct;102(10):1758–1766. PMCID: PMC5622860 |
HIST1H1E.md
| ... | ... | @@ -5,6 +5,15 @@ This is one of several genes that encode linker histone proteins that are recurr |
| 5 | 5 | ## History |
| 6 | 6 | Mutations in this gene were first described in DLBCL in 2013 by Morin et al.<sup>3</sup> Mutations were subsequently reported in FL in 2017 by Krysiak et al<sup>4</sup> and in BL by Grande et al.<sup>5</sup> |
| 7 | 7 | |
| 8 | +```mermaid |
|
| 9 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 10 | +timeline |
|
| 11 | + title Publication timing |
|
| 12 | + 2013-08-15 : Morin : DLBCL |
|
| 13 | + 2015-02-12 : Reichel : PMBL |
|
| 14 | + 2017-01-26 : Krysiak : FL |
|
| 15 | + 2019-03-21 : Grande : BL |
|
| 16 | +``` |
|
| 8 | 17 | ## Relevance tier by entity |
| 9 | 18 | |
| 10 | 19 | |Entity|Tier|Description | |
HIST1H2AC.md
| ... | ... | @@ -1,6 +1,13 @@ |
| 1 | 1 | # HIST1H2AC |
| 2 | 2 | This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. |
| 3 | - |
|
| 3 | + ## History |
|
| 4 | +```mermaid |
|
| 5 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 6 | +timeline |
|
| 7 | + title Publication timing |
|
| 8 | + 2013-08-15 : Morin : DLBCL |
|
| 9 | + 2017-01-26 : Krysiak : FL |
|
| 10 | +``` |
|
| 4 | 11 | ## Relevance tier by entity |
| 5 | 12 | |
| 6 | 13 | |Entity|Tier|Description | |
| ... | ... | @@ -65,3 +72,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 65 | 72 | <!-- ORIGIN: morinMutationalStructuralAnalysis2013 --> |
| 66 | 73 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 67 | 74 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 75 | +## References |
|
| 76 | +1. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992 |
|
| 77 | +2. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
HIST1H2AG.md
| ... | ... | @@ -1,9 +1,19 @@ |
| 1 | 1 | # HIST1H2AG |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2012-08-27 : Rossi : MZL |
|
| 8 | + 2013-08-15 : Morin : DLBCL |
|
| 9 | + 2017-01-26 : Krysiak : FL |
|
| 10 | + 2019-09-26 : Panea : BL |
|
| 11 | +``` |
|
| 3 | 12 | ## Relevance tier by entity |
| 4 | 13 | |
| 5 | 14 | |Entity|Tier|Description | |
| 6 | 15 | |:------:|:----:|-----------------------------------------| |
| 16 | +||2|relevance in MZL not firmly established| |
|
| 7 | 17 | | |2 |relevance in BL not firmly established | |
| 8 | 18 | | |2 |relevance in DLBCL not firmly established| |
| 9 | 19 | | |1 |high-confidence FL gene | |
| ... | ... | @@ -57,3 +67,8 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 57 | 67 | <!-- DLBCL: morinMutationalStructuralAnalysis2013 --> |
| 58 | 68 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 59 | 69 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 70 | +## References |
|
| 71 | +1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941 |
|
| 72 | +2. Morin RD, Mungall K, Pleasance E, Mungall AJ, Goya R, Huff RD, Scott DW, Ding J, Roth A, Chiu R, Corbett RD, Chan FC, Mendez-Lago M, Trinh DL, Bolger-Munro M, Taylor G, Hadj Khodabakhshi A, Ben-Neriah S, Pon J, Meissner B, Woolcock B, Farnoud N, Rogic S, Lim EL, Johnson NA, Shah S, Jones S, Steidl C, Holt R, Birol I, Moore R, Connors JM, Gascoyne RD, Marra MA. Mutational and structural analysis of diffuse large B-cell lymphoma using whole-genome sequencing. Blood. 2013 Aug 15;122(7):1256–1265. PMCID: PMC3744992 |
|
| 73 | +3. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
|
| 74 | +4. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST1H2AM.md
| ... | ... | @@ -1,6 +1,14 @@ |
| 1 | 1 | # HIST1H2AM |
| 2 | 2 | ## Overview |
| 3 | 3 | This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. |
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2017-01-26 : Krysiak : FL |
|
| 10 | + 2019-09-26 : Panea : BL |
|
| 11 | +``` |
|
| 4 | 12 | ## Relevance tier by entity |
| 5 | 13 | |
| 6 | 14 | |Entity|Tier|Description | |
| ... | ... | @@ -76,3 +84,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 76 | 84 | <!-- ORIGIN: krysiakRecurrentSomaticMutations2017b --> |
| 77 | 85 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 78 | 86 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 87 | +## References |
|
| 88 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
|
| 89 | +2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST1H2BC.md
| ... | ... | @@ -1,7 +1,15 @@ |
| 1 | 1 | # HIST1H2BC |
| 2 | 2 | ## Overview |
| 3 | 3 | This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2017-01-26 : Krysiak : FL |
|
| 10 | + 2017-10-10 : Reddy : DLBCL |
|
| 11 | + 2019-09-05 : Mottok : PMBL |
|
| 12 | +``` |
|
| 5 | 13 | ## Relevance tier by entity |
| 6 | 14 | |
| 7 | 15 | |Entity|Tier|Description | |
| ... | ... | @@ -71,3 +79,7 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 71 | 79 | <!-- PMBL: mottokIntegrativeGenomicAnalysis2019b --> |
| 72 | 80 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 73 | 81 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 82 | +## References |
|
| 83 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
|
| 84 | +2. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15. |
|
| 85 | +3. Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C. Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood. 2019 Sep 5;134(10):802–813. PMID: 31292115 |
HIST1H2BD.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # HIST1H2BD |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-01-26 : Krysiak : FL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -31,3 +37,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 31 | 37 |  |
| 32 | 38 | <!-- ORIGIN: krysiakRecurrentSomaticMutations2017b --> |
| 33 | 39 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 40 | +## References |
|
| 41 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
HIST1H2BG.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # HIST1H2BG |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-01-26 : Krysiak : FL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -31,3 +37,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 31 | 37 |  |
| 32 | 38 | <!-- ORIGIN: krysiakRecurrentSomaticMutations2017b --> |
| 33 | 39 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 40 | +## References |
|
| 41 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
HIST1H2BK.md
| ... | ... | @@ -1,11 +1,19 @@ |
| 1 | 1 | # HIST1H2BK |
| 2 | 2 | ## Overview |
| 3 | 3 | This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2012-08-27 : Rossi : MZL |
|
| 10 | + 2019-09-26 : Panea : BL |
|
| 11 | +``` |
|
| 5 | 12 | ## Relevance tier by entity |
| 6 | 13 | |
| 7 | 14 | |Entity|Tier|Description | |
| 8 | 15 | |:------:|:----:|--------------------------------------| |
| 16 | +||2|relevance in MZL not firmly established| |
|
| 9 | 17 | | |2 |relevance in BL not firmly established| |
| 10 | 18 | | |1 |high-confidence DLBCL gene | |
| 11 | 19 | |
| ... | ... | @@ -46,3 +54,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 46 | 54 | <!-- ORIGIN: rossiCodingGenomeSplenic2012c --> |
| 47 | 55 | <!-- MZL: rossiCodingGenomeSplenic2012c --> |
| 48 | 56 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 57 | +## References |
|
| 58 | +1. Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941 |
|
| 59 | +2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST1H2BM.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # HIST1H2BM |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-01-26 : Krysiak : FL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -36,3 +42,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 36 | 42 |  |
| 37 | 43 | <!-- ORIGIN: krysiakRecurrentSomaticMutations2017b --> |
| 38 | 44 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 45 | +## References |
|
| 46 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
HIST1H3B.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # HIST1H3B |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2013-01-01 : Zhang : DLBCL |
|
| 8 | + 2015-02-12 : Reichel : PMBL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -51,3 +58,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 51 | 58 | <!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 --> |
| 52 | 59 | <!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 --> |
| 53 | 60 | <!-- PMBL: reichelFlowSortingExome2015a --> |
| 61 | +## References |
|
| 62 | +1. Zhang J, Grubor V, Love CL, Banerjee A, Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C, Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A, Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J, Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse large B-cell lymphoma. 2013 Jan; |
|
| 63 | +2. Reichel J, Chadburn A, Rubinstein PG, Giulino-Roth L, Tam W, Liu Y, Gaiolla R, Eng K, Brody J, Inghirami G, Carlo-Stella C, Santoro A, Rahal D, Totonchy J, Elemento O, Cesarman E, Roshal M. Flow sorting and exome sequencing reveal the oncogenome of primary Hodgkin and Reed-Sternberg cells. Blood. 2015 Feb 12;125(7):1061–1072. PMID: 25488972 |
HIST1H3D.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # HIST1H3D |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2019-09-26 : Panea : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -46,3 +52,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 46 | 52 |  |
| 47 | 53 | <!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
| 48 | 54 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 55 | +## References |
|
| 56 | +1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST1H3G.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # HIST1H3G |
| 2 | 2 | |
| 3 | +## History |
|
| 4 | +```mermaid |
|
| 5 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 6 | +timeline |
|
| 7 | + title Publication timing |
|
| 8 | + 2017-01-26 : Krysiak : FL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -33,3 +40,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 33 | 40 |  |
| 34 | 41 | <!-- ORIGIN: krysiakRecurrentSomaticMutations2017b --> |
| 35 | 42 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 43 | +## References |
|
| 44 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
HIST1H3H.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # HIST1H3H |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2019-09-26 : Panea : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -38,3 +44,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 38 | 44 |  |
| 39 | 45 | <!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
| 40 | 46 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 47 | +## References |
|
| 48 | +1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST1H3I.md
| ... | ... | @@ -1,5 +1,12 @@ |
| 1 | 1 | # HIST1H3I |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-01-26 : Krysiak : FL |
|
| 8 | + 2019-09-26 : Panea : BL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| ... | ... | @@ -41,3 +48,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 41 | 48 | <!-- ORIGIN: krysiakRecurrentSomaticMutations2017b --> |
| 42 | 49 | <!-- FL: krysiakRecurrentSomaticMutations2017b --> |
| 43 | 50 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 51 | +## References |
|
| 52 | +1. Krysiak K, Gomez F, White BS, Matlock M, Miller CA, Trani L, Fronick CC, Fulton RS, Kreisel F, Cashen AF, Carson KR, Berrien-Elliott MM, Bartlett NL, Griffith M, Griffith OL, Fehniger TA. Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473–483. PMCID: PMC5270390 |
|
| 53 | +2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST1H3J.md
| ... | ... | @@ -1,5 +1,11 @@ |
| 1 | 1 | # HIST1H3J |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2019-09-26 : Panea : BL |
|
| 8 | +``` |
|
| 3 | 9 | ## Relevance tier by entity |
| 4 | 10 | |
| 5 | 11 | |Entity|Tier|Description | |
| ... | ... | @@ -46,3 +52,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 46 | 52 |  |
| 47 | 53 | <!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
| 48 | 54 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 55 | +## References |
|
| 56 | +1. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST1H4J.md
| ... | ... | @@ -1,9 +1,17 @@ |
| 1 | 1 | # HIST1H4J |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2019-09-05 : Mottok : PMBL |
|
| 8 | + 2019-09-26 : Panea : BL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| 6 | 13 | |:------:|:----:|--------------------------------------| |
| 14 | +||2|relevance in PMBL/cHL/GZL not firmly established| |
|
| 7 | 15 | | |2 |relevance in BL not firmly established| |
| 8 | 16 | |
| 9 | 17 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -39,3 +47,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 39 | 47 | <!-- ORIGIN: paneaWholeGenomeLandscape2019 --> |
| 40 | 48 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 41 | 49 | <!-- BL: paneaWholeGenomeLandscape2019 --> |
| 50 | +## References |
|
| 51 | +1. Mottok A, Hung SS, Chavez EA, Woolcock B, Telenius A, Chong LC, Meissner B, Nakamura H, Rushton C, Viganò E, Sarkozy C, Gascoyne RD, Connors JM, Ben-Neriah S, Mungall A, Marra MA, Siebert R, Scott DW, Savage KJ, Steidl C. Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma. Blood. 2019 Sep 5;134(10):802–813. PMID: 31292115 |
|
| 52 | +2. Panea R, Love C, Shingleton JR, Reddy A, Bailey J, Moormann A, Otieno J, Ong’echa J, Oduor C, Schroêder K, Masalu N, Chao N, Agajanian M, Major M, Fedoriw Y, Richards K, Rymkiewicz G, Miles R, Alobeid B, Bhagat G, Flowers C, Ondrejka S, Hsi E, Choi W, Au-Yeung R, Hartmann W, Lenz G, Meyerson H, Lin YY, Zhuang Y, Luftig M, Waldrop A, Dave T, Thakkar D, Sahay H, Li G, Palus B, Seshadri V, Kim S, Gascoyne R, Levy S, Mukhopadhyay M, Dunson D, Dave S. The whole genome landscape of Burkitt lymphoma subtypes. Blood. 2019; |
HIST2H2BE.md
| ... | ... | @@ -1,7 +1,13 @@ |
| 1 | 1 | # HIST2H2BE |
| 2 | 2 | ## Overview |
| 3 | 3 | This gene encodes the H2A protein, one of the core proteins comprising nucleosomes. Although relatively common in DLBCL, little is known about the function of these mutations. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2018-04-12 : Schmitz : DLBCL |
|
| 10 | +``` |
|
| 5 | 11 | ## Relevance tier by entity |
| 6 | 12 | |
| 7 | 13 | |Entity|Tier|Description | |
| ... | ... | @@ -36,3 +42,5 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 36 | 42 |  |
| 37 | 43 | <!-- ORIGIN: schmitzGeneticsPathogenesisDiffuse2018a --> |
| 38 | 44 | <!-- DLBCL: schmitzGeneticsPathogenesisDiffuse2018a --> |
| 45 | +## References |
|
| 46 | +1. Schmitz R, Wright GW, Huang DW, Johnson CA, Phelan JD, Wang JQ, Roulland S, Kasbekar M, Young RM, Shaffer AL, Hodson DJ, Xiao W, Yu X, Yang Y, Zhao H, Xu W, Liu X, Zhou B, Du W, Chan WC, Jaffe ES, Gascoyne RD, Connors JM, Campo E, Lopez-Guillermo A, Rosenwald A, Ott G, Delabie J, Rimsza LM, Tay Kuang Wei K, Zelenetz AD, Leonard JP, Bartlett NL, Tran B, Shetty J, Zhao Y, Soppet DR, Pittaluga S, Wilson WH, Staudt LM. Genetics and Pathogenesis of Diffuse Large B-Cell Lymphoma. N Engl J Med. 2018 Apr 12;378(15):1396–1407. PMCID: PMC6010183 |
HLA-A.md
| ... | ... | @@ -1,7 +1,13 @@ |
| 1 | 1 | # HLA-A |
| 2 | 2 | ## Overview |
| 3 | 3 | Mutations in the HLA-B gene have been associated with a loss of cell surface expression of HLA class I molecules, which are essential for presenting tumor antigens to cytotoxic T cells. This is a common mechanism of immune escape in DLBCL. Deletions of this gene are more commonly reported than HLA-B mutations.<sup>1</sup> The mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*. Different analytical strategies relating to the mapping of sequencing data and subtracting common germline variants can complicate the detection of mutations in this and other HLA genes. Likely owing to this, the rate of mutations is highly variable across studies and the true mutation rate has not been firmly established. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2019-08-20 : Desch : PMBL |
|
| 10 | +``` |
|
| 5 | 11 | ## Relevance tier by entity |
| 6 | 12 | |
| 7 | 13 | |Entity|Tier|Description | |
HRAS.md
| ... | ... | @@ -1,9 +1,17 @@ |
| 1 | 1 | # HRAS |
| 2 | - |
|
| 2 | +## History |
|
| 3 | +```mermaid |
|
| 4 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 5 | +timeline |
|
| 6 | + title Publication timing |
|
| 7 | + 2017-07-27 : Jallades : MZL |
|
| 8 | + 2017-10-10 : Reddy : DLBCL |
|
| 9 | +``` |
|
| 3 | 10 | ## Relevance tier by entity |
| 4 | 11 | |
| 5 | 12 | |Entity|Tier|Description | |
| 6 | 13 | |:------:|:----:|-----------------------------------------| |
| 14 | +||2|relevance in MZL not firmly established| |
|
| 7 | 15 | | |2 |relevance in DLBCL not firmly established| |
| 8 | 16 | |
| 9 | 17 | ## Mutation incidence in large patient cohorts (GAMBL reanalysis) |
| ... | ... | @@ -40,3 +48,6 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/H |
| 40 | 48 | <!-- ORIGIN: reddyGeneticFunctionalDrivers2017 --> |
| 41 | 49 | <!-- MZL: jalladesExomeSequencingIdentifies2017 --> |
| 42 | 50 | <!-- DLBCL: reddyGeneticFunctionalDrivers2017 --> |
| 51 | +## References |
|
| 52 | +1. Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A. Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma. Haematologica. 2017 Oct;102(10):1758–1766. PMCID: PMC5622860 |
|
| 53 | +2. Reddy A, Zhang J, Davis NS, Moffitt AB, Love CL, Waldrop A, Leppa S, Pasanen A, Meriranta L, Karjalainen-Lindsberg ML, Nørgaard P, Pedersen M, Gang AO, Høgdall E, Heavican TB, Lone W, Iqbal J, Qin Q, Li G, Kim SY, Healy J, Richards KL, Fedoriw Y, Bernal-Mizrachi L, Koff JL, Staton AD, Flowers CR, Paltiel O, Goldschmidt N, Calaminici M, Clear A, Gribben J, Nguyen E, Czader MB, Ondrejka SL, Collie A, Hsi ED, Tse E, Au-Yeung RKH, Kwong YL, Srivastava G, Choi WWL, Evens AM, Pilichowska M, Sengar M, Reddy N, Li S, Chadburn A, Gordon LI, Jaffe ES, Levy S, Rempel R, Tzeng T, Happ LE, Dave T, Rajagopalan D, Datta J, Dunson DB, Dave SS. Genetic and Functional Drivers of Diffuse Large B Cell Lymphoma. Cell. 2017 Oct;171(2):481-494.e15. |
HRAS.pdf
| ... | ... | Binary files /dev/null and b/HRAS.pdf differ |
HVCN1.md
| ... | ... | @@ -1,7 +1,13 @@ |
| 1 | 1 | # HVCN1 |
| 2 | 2 | ## Overview |
| 3 | 3 | HVCN1, a voltage-gated proton channel, has been identified as recurrently mutated in follicular lymphoma and mutations also appear in some DLBCL.<sup>1</sup> HVCN1 mutations disrupt its normal function, affecting B-cell receptor (BCR) signaling pathways.<sup>1</sup> This gene has some recurrent sites of mutations (hot spots) but the function of these mutations is not well understood. The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*. |
| 4 | - |
|
| 4 | +## History |
|
| 5 | +```mermaid |
|
| 6 | +%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
|
| 7 | +timeline |
|
| 8 | + title Publication timing |
|
| 9 | + 2017-01-26 : Krysiak : FL |
|
| 10 | +``` |
|
| 5 | 11 | ## Relevance tier by entity |
| 6 | 12 | |
| 7 | 13 | |Entity|Tier|Description | |
WNK1.md
| ... | ... | @@ -5,7 +5,7 @@ |
| 5 | 5 | timeline |
| 6 | 6 | title Publication timing |
| 7 | 7 | 2017-07-27 : Jallades : MZL |
| 8 | - 2021-05-05 : H : DLBCL |
|
| 8 | + 2021-05-05 : Hübschmann : DLBCL |
|
| 9 | 9 | 2023-02-03 : Thomas : BL |
| 10 | 10 | ``` |
| 11 | 11 | ## Relevance tier by entity |
| ... | ... | @@ -37,9 +37,6 @@ timeline |
| 37 | 37 | |FL |No |No |3.487 |0 | |
| 38 | 38 | |
| 39 | 39 | |
| 40 | -> [!NOTE] |
|
| 41 | -> First described in BL in 2023 by [Thomas N](https://pubmed.ncbi.nlm.nih.gov/36201743). First described in DLBCL in 2021 by [Hübschmann D](https://pubmed.ncbi.nlm.nih.gov/33953289) |
|
| 42 | - |
|
| 43 | 40 | |
| 44 | 41 | ## WNK1 Hotspots |
| 45 | 42 | |
| ... | ... | @@ -57,11 +54,11 @@ View all variants in GenomePaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/W |
| 57 | 54 | ## WNK1 Expression |
| 58 | 55 |  |
| 59 | 56 | |
| 60 | -## References |
|
| 61 | -1. *Hübschmann D, Kleinheinz K, Wagener R, Bernhart SH, López C, Toprak UH, Sungalee S, Ishaque N, Kretzmer H, Kreuz M, Waszak SM, Paramasivam N, Ammerpohl O, Aukema SM, Beekman R, Bergmann AK, Bieg M, Binder H, Borkhardt A, Borst C, Brors B, Bruns P, Carrillo de Santa Pau E, Claviez A, Doose G, Haake A, Karsch D, Haas S, Hansmann ML, Hoell JI, Hovestadt V, Huang B, Hummel M, Jäger-Schmidt C, Kerssemakers JNA, Korbel JO, Kube D, Lawerenz C, Lenze D, Martens JHA, Ott G, Radlwimmer B, Reisinger E, Richter J, Rico D, Rosenstiel P, Rosenwald A, Schillhabel M, Stilgenbauer S, Stadler PF, Martín-Subero JI, Szczepanowski M, Warsow G, Weniger MA, Zapatka M, Valencia A, Stunnenberg HG, Lichter P, Möller P, Loeffler M, Eils R, Klapper W, Hoffmann S, Trümper L; ICGC MMML-Seq consortium; ICGC DE-Mining consortium; BLUEPRINT consortium; Küppers R, Schlesner M, Siebert R. Mutational mechanisms shaping the coding and noncoding genome of germinal center derived B-cell lymphomas. Leukemia. 2021 Jul;35(7):2002-2016. doi: 10.1038/s41375-021-01251-z. Epub 2021 May 5. PMID: 33953289; PMCID: PMC8257491.* |
|
| 62 | -2. *Thomas N, Dreval K, Gerhard DS, Hilton LK, Abramson JS, Ambinder RF, Barta S, Bartlett NL, Bethony J, Bhatia K, Bowen J, Bryan AC, Cesarman E, Casper C, Chadburn A, Cruz M, Dittmer DP, Dyer MA, Farinha P, Gastier-Foster JM, Gerrie AS, Grande BM, Greiner T, Griner NB, Gross TG, Harris NL, Irvin JD, Jaffe ES, Henry D, Huppi R, Leal FE, Lee MS, Martin JP, Martin MR, Mbulaiteye SM, Mitsuyasu R, Morris V, Mullighan CG, Mungall AJ, Mungall K, Mutyaba I, Nokta M, Namirembe C, Noy A, Ogwang MD, Omoding A, Orem J, Ott G, Petrello H, Pittaluga S, Phelan JD, Ramos JC, Ratner L, Reynolds SJ, Rubinstein PG, Sissolak G, Slack G, Soudi S, Swerdlow SH, Traverse-Glehen A, Wilson WH, Wong J, Yarchoan R, ZenKlusen JC, Marra MA, Staudt LM, Scott DW, Morin RD. Genetic subgroups inform on pathobiology in adult and pediatric Burkitt lymphoma. Blood. 2023 Feb 23;141(8):904-916. doi: 10.1182/blood.2022016534. PMID: 36201743; PMCID: PMC10023728.* |
|
| 63 | - |
|
| 64 | 57 | <!-- ORIGIN: jalladesExomeSequencingIdentifies2017 --> |
| 65 | 58 | <!-- DLBCL: hubschmannMutationalMechanismsShaping2021b --> |
| 66 | 59 | <!-- MZL: jalladesExomeSequencingIdentifies2017 --> |
| 67 | 60 | <!-- BL: thomasGeneticSubgroupsInform2023 --> |
| 61 | +## References |
|
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